目的 分析新疆地区维吾尔族11β‑羟化酶缺乏症（11β‑hydroxylase deficiency, 11β‑OHD）患儿的临床特征、治疗效果及CYP11B1基因变异谱，探讨该民族基因和临床表现的特异性。 方法 回顾性分析2015年9月—2025年9月在新疆医科大学第一附属医院儿科确诊的10例维吾尔族11β‑OHD患儿的临床、实验室、基因检测及随访资料。 结果 10例患儿的中位诊断年龄为3.85岁；7例为46,XX（其中3例误作男性抚养），3例为46,XY；4例患儿父母为近亲结婚。所有患儿均存在促肾上腺皮质激素、睾酮、17α‑羟孕酮水平升高，8例骨龄提前，4例合并高血压（中位发病年龄为8.8岁）。共检出CYP11B1基因8种变异，以纯合变异为主（8/10）；发现3种首次报道的变异，其中c.715_731del（p.F239fs）频率最高（3/10）。经糖皮质激素及对症治疗后，4例高血压患儿血压水平及10例患儿内分泌激素水平均显著改善（P<0.05），但骨龄别身高标准差积分无明显变化（P>0.05）。 结论 新疆维吾尔族11β‑OHD患儿可能具有独特的CYP11B1基因变异谱，纯合变异可能与该民族高近亲结婚率有关。c.715_731del可能为该人群的奠基者变异，骨龄提前和高雄激素血症是该人群早期诊断的关键线索。

Objective To study the clinical characteristics, treatment outcomes, and CYP11B1 gene mutation spectrum in Uyghur children with 11β-hydroxylase deficiency (11β-OHD) in Xinjiang, and to explore the ethnic-specific features of genotypes and clinical phenotypes. Methods Clinical, laboratory, genetic, and follow-up data of 10 Uyghur children diagnosed with 11β-OHD at the Department of Pediatrics of the First Affiliated Hospital of Xinjiang Medical University from September 2015 to September 2025 were retrospectively analyzed. Results The median age at diagnosis was 3.85 years; 7 patients were 46,XX (including 3 raised as males) and 3 were 46,XY; parental consanguinity was observed in 4 cases. All patients had elevated adrenocorticotropic hormone, testosterone, and 17α-hydroxyprogesterone levels. Eight children had advanced bone age. Four children had hypertension, with a median age at onset of 8.8 years. Eight distinct CYP11B1 variants were identified; homozygous variants predominated (8/10). Three novel variants were detected, among which c.715_731del (p.F239fs) was the most frequent (3/10). After glucocorticoid and symptomatic treatment, blood pressure in the 4 hypertensive patients and endocrine hormone levels in all 10 patients improved significantly (P<0.05), while the height standard deviation score for bone age showed no significant change (P>0.05). Conclusions Uyghur children with 11β-OHD in Xinjiang may have a unique CYP11B1 mutation spectrum. The high prevalence of homozygous variants likely relates to the high rate of consanguineous marriage in this population. The c.715_731del variant may represent a founder mutation. Advanced bone age and hyperandrogenemia are key clues for early diagnosis.